title: Novel missense mutation (G601S) of HERG in a Japanese long QT syndrome family.
authors.affiliation: Department of Pediatric Cardiology, Heart Institute of Japan, Tokyo Women's Medical College.
authors.forename: K
authors.initials: K
authors.lastname: Akimoto
authors.forename: M
authors.initials: M
authors.lastname: Furutani
authors.forename: S
authors.initials: S
authors.lastname: Imamura
authors.forename: Y
authors.initials: Y
authors.lastname: Furutani
authors.forename: H
authors.initials: H
authors.lastname: Kasanuki
authors.forename: A
authors.initials: A
authors.lastname: Takao
authors.forename: K
authors.initials: K
authors.lastname: Momma
authors.forename: R
authors.initials: R
authors.lastname: Matsuoka
mesh_terms: D019943:Amino Acid Substitution; D027682:Cation Transport Proteins; D003062:Codon / Q000235:genetics; D004247:DNA / Q000737:chemistry / Q000235:genetics; D004252:DNA Mutational Analysis; D018076:DNA, Complementary / Q000737:chemistry / Q000235:genetics; D004268:DNA-Binding Proteins; D000072237:ERG1 Potassium Channel; D051638:Ether-A-Go-Go Potassium Channels; D005192:Family Health; D005998:Glycine; D006801:Humans; D007564:Japan; D008133:Long QT Syndrome / Q000235:genetics* / Q000473:pathology; D020125:Mutation, Missense; D017354:Point Mutation; D018807:Polymorphism, Single-Stranded Conformational; D015221:Potassium Channels / Q000235:genetics*; D024642:Potassium Channels, Voltage-Gated; D012694:Serine; D015534:Trans-Activators; D000071230:Transcriptional Regulator ERG
chemical_list: D027682:Cation Transport Proteins; D003062:Codon; D018076:DNA, Complementary; D004268:DNA-Binding Proteins; C072312:ERG protein, human; D000072237:ERG1 Potassium Channel; D051638:Ether-A-Go-Go Potassium Channels; C000606913:KCNH2 protein, human; C092509:KCNH6 protein, human; D015221:Potassium Channels; D024642:Potassium Channels, Voltage-Gated; D015534:Trans-Activators; D000071230:Transcriptional Regulator ERG; D012694:Serine; D004247:DNA; D005998:Glycine